JAK3
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.21122G>A
CDS: c.3208-1G>A
AnimoAcid: 		Substitutions Direct sequencing Mjaanes CM et al., 2007
2 Insertion Genomic: g.7721_7722insG
CDS: c.1172_1173insG
AnimoAcid: p.Gly392TrpfsX18		 Insertion Direct sequencing Roberts JL et al., 2004
3 Substitutions Genomic: g.10095C>A
CDS: c.1695C>A
AnimoAcid: p.Cys565X		 Substitutions Direct sequencing Roberts JL et al., 2004
4 Deletion Genomic: g.3786_3788delTGC
CDS: c.171_173delTGC
AnimoAcid: p.Ala58del		 Deletion Direct sequencing Roberts JL et al., 2004
5 Substitutions Genomic: g.4947C>A
CDS: c.507C>A
AnimoAcid: p.Asp169Glu		 Substitutions Direct sequencing Roberts JL et al., 2004
6 Substitutions Genomic: g.10883G>A
CDS: c.1765G>A
AnimoAcid: p.Gly589Ser		 Substitutions Direct sequencing Roberts JL et al., 2004
7 Substitutions Genomic: g.13146G>A
CDS: c.2164G>A
AnimoAcid: p.Val722Ile		 Substitutions Direct sequencing Roberts JL et al., 2004
8 Substitutions Genomic: g.16788C>T
CDS: c.2961C>T
AnimoAcid: p.Gln988MetfsX44		 Substitutions Direct sequencing Roberts JL et al., 2004
9 Deletion Genomic: g.3723delG
CDS: c.108delG
AnimoAcid: p.Gln39SerfsX108		 Deletion Direct sequencing Roberts JL et al., 2004
10 Substitutions Genomic: g.16341T>G
CDS: c.2787T>G
AnimoAcid: p.Tyr929X		 Substitutions Direct sequencing Roberts JL et al., 2004
11 Substitutions Genomic: g.15517G>C
CDS: c.2680+3G>C
AnimoAcid: 		Substitutions Direct sequencing Frucht DM et al., 2001
12 Substitutions Genomic: g.3616A>G
CDS: c.1A>G
AnimoAcid: 		Substitutions Direct sequencing Frucht DM et al., 2001
13 Substitutions Genomic: g.3616A>G
CDS: c.1A>G
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
14 Substitutions Genomic: g.3787G>C
CDS: c.172G>C
AnimoAcid: p.Ala58Pro		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
15 Substitutions Genomic: g.15517G>C
CDS: c.2680+3G>C
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
16 Deletion Genomic: g.17506delC
CDS: c.3072delC
AnimoAcid: p.Cys1024TrpfsX14		 Deletion Direct sequencing, Heteroduplex analysis Mella P et al., 2001
17 Substitutions Genomic: g.13074G>T
CDS: c.2092G>T
AnimoAcid: p.Glu698X		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
18 Substitutions Genomic: g.12854C>T
CDS: c.1951C>T
AnimoAcid: p.Arg651Trp		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
19 Substitutions Genomic: g.13047C>T
CDS: c.2065C>T
AnimoAcid: p.Pro689Ser		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
20 Substitutions Genomic: g.13408C>T
CDS: c.2296C>T
AnimoAcid: p.Gln766X		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
21 Substitutions Genomic: g.13423C>T
CDS: c.2311C>T
AnimoAcid: p.Arg771X		 Substitutions Direct sequencing, Heteroduplex analysis Mella P et al., 2001
22 Substitutions Genomic: g.4247A>G
CDS: c.299A>G
AnimoAcid: p.Tyr100Cys		 Substitutions Direct sequencing, Restriction enzyme analysis Macchi P et al., 1995
23 Deletion Genomic: r.2199_2349del151
CDS:
AnimoAcid: 		Deletion Direct sequencing Macchi P et al., 1995
24 Substitutions Genomic: g.13464T>C
CDS: c.2350+2T>C
AnimoAcid: 		Substitutions Direct sequencing Villa A et al., 1996
25 Substitutions Genomic: g.9643A>G
CDS: c.1442A>G
AnimoAcid: p.Glu481Gly		 Substitutions Direct sequencing Candotti F et al., 1997
26 Substitutions Genomic: g.8448C>T
CDS: c.1333C>T
AnimoAcid: p.Arg445X		 Substitutions Direct sequencing, Restriction enzyme analysis Candotti F et al., 1997
27 Substitutions Genomic: g.13387T>C
CDS: c.2275T>C
AnimoAcid: p.Cys759Arg		 Substitutions Direct sequencing, Restriction enzyme analysis Candotti F et al., 1997
28 Substitutions Genomic: g.9641A>G
CDS: c.1442-2A>G
AnimoAcid: p.Glu481ValfsX37		 Substitutions Direct sequencing, SSCP Candotti F et al., 1997
29 Substitutions Genomic: g.10885C>T
CDS: c.1767C>T
AnimoAcid: p.Val590_Ser596del		 Substitutions Direct sequencing Candotti F et al., 1997
30 Deletion Genomic: c.1442_1786del
CDS: r.1442_1786del
AnimoAcid: 		Deletion Direct sequencing, Southern blotting Candotti F et al., 1997
31 Substitutions Genomic: g.10095C>A
CDS: c.1695C>A
AnimoAcid: p.Cys565X		 Substitutions Direct sequencing Russell SM et al., 1995
32 Duplications Genomic: r.1178dupg
CDS:
AnimoAcid: p.Ser394LeufsX16		 Duplications Direct sequencing Russell SM et al., 1995
33 Substitutions Genomic: g.13146G>A
CDS: c.2164G>A
AnimoAcid: p.Val722Ile		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
34 Substitutions Genomic: g.4892C>G
CDS: c.452C>G
AnimoAcid: p.Pro151Arg		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
35 Substitutions Genomic: g.8448C>T
CDS: c.1333C>T
AnimoAcid: p.Arg445X		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
36 Substitutions Genomic: g.9643A>G
CDS: c.1442A>G
AnimoAcid: p.Glu481Gly		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
37 Substitutions Genomic: g.13062G>A
CDS: c.2080G>A
AnimoAcid: p.Glu694Lys		 Substitutions Direct sequencing Mella P et al., 2001
38 Substitutions Genomic: g.16283T>C
CDS: c.2729T>C
AnimoAcid: p.Leu910Ser		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
39 Substitutions Genomic: g.17532T>A
CDS: c.3096+2T>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
40 Substitutions Genomic: g.11981G>A
CDS: c.1787-1G>A
AnimoAcid: 		Substitutions Direct sequencing Mella P et al., 2001
41 Substitutions Genomic: g.17503C>A
CDS: c.3069C>A
AnimoAcid: p.Tyr1023X		 Substitutions Direct sequencing, SSCP Schumacher RF et al., 2000
42 Substitutions Genomic: g.4247A>G
CDS: c.299A>G
AnimoAcid: p.Tyr100Cys		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
43 Substitutions Genomic: g.4892C>G
CDS: c.452C>G
AnimoAcid: p.Pro151Arg		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
44 Substitutions Genomic: g.8448C>T
CDS: c.1333C>T
AnimoAcid: p.Arg445X		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
45 Substitutions Genomic: g.13387T>C
CDS: c.2275T>C
AnimoAcid: p.Cys759Arg		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
46 Substitutions Genomic: g.9643A>G
CDS: c.1442A>G
AnimoAcid: p.Glu481Gly		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
47 Substitutions Genomic: g.10862C>T
CDS: c.1744C>T
AnimoAcid: p.Arg582Trp		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
48 Substitutions Genomic: g.13146G>A
CDS: c.2164G>A
AnimoAcid: p.Val722Ile		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
49 Substitutions Genomic: g.16283T>C
CDS: c.2729T>C
AnimoAcid: p.Leu910Ser		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
50 Substitutions Genomic: g.17503C>A
CDS: c.3069C>A
AnimoAcid: p.Tyr1023X		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
51 Substitutions Genomic: g.3787G>C
CDS: c.172G>C
AnimoAcid: p.Ala58Pro		 Substitutions Direct sequencing, SSCP Vihinen M et al., 2000
52 Deletion Genomic: g.17506delC
CDS: c.3072delC
AnimoAcid: p.Cys1024TrpfsX14		 Deletion Direct sequencing, SSCP Vihinen M et al., 2000
53 Substitutions Genomic: g.9769G>A
CDS: c.1568G>A
AnimoAcid: p.Trp523X		 Substitutions Direct sequencing Uchiyama T et al., 2005
54 Substitutions Genomic: g.8448C>T
CDS: c.1333C>T
AnimoAcid: p.Arg445X		 Substitutions Direct sequencing Schumacher RF et al., 1999
55 Substitutions Genomic: g.13387T>C
CDS: c.2275T>C
AnimoAcid: p.Cys759Arg		 Substitutions Direct sequencing Schumacher RF et al., 1999
56 Substitutions Genomic: g.4247A>G
CDS: c.299A>G
AnimoAcid: p.Tyr100Cys		 Substitutions NA Cacalano NA et al., 1999
57 Substitutions Genomic: g.4963C>T
CDS: c.523C>T
AnimoAcid: p.Arg175X		 Substitutions PCR based assay Hashii Y et al., 2009
58 Substitutions Genomic: g.13408C>T
CDS: c.2296C>T
AnimoAcid: p.Gln766X		 Substitutions Direct sequencing Gilmour KC et al., 2001
59 Substitutions Genomic: g.17532T>A
CDS: c.3096+2T>A
AnimoAcid: 		Substitutions Direct sequencing Gilmour KC et al., 2001
60 Substitutions Genomic: g.4892C>G
CDS: c.452C>G
AnimoAcid: p.Pro151Arg		 Substitutions Direct sequencing Lotz DR et al., 2010
61 Substitutions Genomic: g.10862C>T
CDS: c.1744C>T
AnimoAcid: p.Arg582Trp		 Substitutions PCR based assay Bozzi F et al., 1998